STT3B-CDG

Definicija

STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).

Pretraga

Pun naziv

STT3B-CDG

Kratki naziv

-

Sinonimi

CDG1XCongenital disorder of glycosylation type IxCongenital disorder of glycosylation type 1xCarbohydrate deficient glycoprotein syndrome type IxCDG-IxCDG syndrome type Ix

Orpha broj

370924

Kategorija

Podkategorija

Naziv na stranom jeziku

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Prevalenca

NULL

Nasleđivanje

Autosomal recessive

Period početka bolesti

-

ICD 10

E77.8

OMIM

615597

UMLS

C2931007

GARD

NULL

MEDDRA

NULL
Tekstualni opis
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Etiologija
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Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
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Genetsko savetovanje
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Terapija
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Klinička istraživanja
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